Update of the Brazilian consensus recommendations on Duchenne muscular dystrophy

Abstract

In the last few decades, there have been considerable improvements in the diagnosis and care of Duchenne muscular dystrophy (DMD), the most common childhood muscular dystrophy. International guidelines have been published and recently reviewed. A group of Brazilian experts has developed a standard of care based on a literature review with evidence-based graded recommendations in a two-part publication. Implementing best practice management has helped change the natural history of this chronic progressive disorder, in which the life expectancy for children of the male sex in the past used to be very limited. Since the previous publication, diagnosis, steroid treatment, rehabilitation, and systemic care have gained more significant insights with new original work in certain fields. Furthermore, the development of new drugs is ongoing, and some interventions have been approved for use in certain countries. Therefore, we have identified the need to review the previous care recommendations for Brazilian patients with DMD. Our objective was to create an evidence-based document that is an update on our previous consensus on those topics.

Resumo

Nas últimas décadas, houve progressos significativos no diagnóstico e no tratamento da distrofia muscular de Duchenne (DMD), considerada a distrofia muscular mais comum na infância. Diretrizes internacionais foram publicadas e revisadas recentemente. Um grupo de especialistas brasileiros desenvolveu um padrão de atendimento baseado em revisão de literatura, com recomendações graduadas pautadas em evidências compiladas em uma publicação dividida em duas partes. A implementação de melhores práticas de manejo ajudou a modificar a história natural desta doença crônica, progressiva, que, no passado, oferecia uma expectativa de vida muito limitada para crianças do sexo masculino. Desde a publicação desse consenso anterior, o diagnóstico, o tratamento com esteroides, a reabilitação e os cuidados sistêmicos ganharam novas possibilidades a partir da divulgação dos resultados de trabalhos originais em algumas dessas áreas. Além disso, as pesquisas e o desenvolvimento de novos fármacos estão em andamento, e algumas intervenções já foram aprovadas para uso em determinados países. Nesse contexto, identificamos a necessidade de rever as recomendações anteriores sobre o manejo dos pacientes brasileiros com DMD. Nosso objetivo principal foi elaborar uma atualização baseada em evidências sobre esses tópicos do consenso.

Keywords

Muscular Dystrophy - Duchenne - Consensus - Practice Guideline - Diagnosis - Genetic Testing - Steroids - Rehabilitation - Drug Therapy - Standard of Care - Drug Development

Palavras-chave

Distrofia Muscular de Duchenne - Consenso - Guia de Prática Clínica - Diagnóstico - Testes Genéticos - Esteroides - Reabilitação - Tratamento Farmacológico - Padrão de Cuidado - Desenvolvimento de Medicamentos

Authors' Contributions

APQCA: general coordinator and project administration, acquisition of data, writing, review, and editing; JAMS: supervision, writing, review, and editing; ALSP, AASC, EBUC, JGG, MCF: acquisition of data and writing; MCF: supervision, writing, review, and editing; ARMM, AN, APPMC, CFRS, MAVA, MVMG, RHS: acquisition of data and writing; JAP, SCF: supervision, writing, review, and editing; MFR, FNS: acquisition of data and writing; CPDDF: supervision, writing, review, and editing; APCSN, ARCN, FRN, SCF: acquisition of data and writing.

Working Groups

Diagnosis

Jonas Alex Morales Saute, Andre Luis Santos Pessoa, Alzira Alves de Siqueira Carvalho, Eduardo Boiteux Uchôa Cavalcanti, Juliana Gurgel-Giannetti, Marcondes Cavalcante França Jr.

Steroid Therapy

Marcondes Cavalcante França Jr., Alberto Rolim Muro Martinez, Anamarli Nucci, Anna Paula Paranhos, Miranda Covaleski, Claudia Ferreira da Rosa Sobreira, Marco Antonio Veloso de Albuquerque, Marcus Vinicius Magno Gonçalves, Rosana Herminia Scola.

Rehabilitation

Jaqueline Almeida Pereira, Marcos Ferreira Rebel, Flavia Nardes dos Santos, Simone Chaves Fagondes.

Systemic care

Clarisse Pereira Dias Drummond Fortes, Ana Paula Cassette dos Santos Nucera, Antonio Rodrigues Coimbra Neto, Flavio Reis Neves, Simone Chaves Fagondes.

New perspectives

Alexandra Prufer de Queiroz Campos Araujo, Alberto Rolim Muro Martinez, Alzira Alves de Siqueira Carvalho, Anamarli Nucci, André Luis Santos Pessoa, Anna Paula Paranhos Miranda Covaleski, Antonio Rodrigues Coimbra Neto, Clarisse Pereira Dias Drummond Fortes, Claudia Ferreira da Rosa Sobreira, Eduardo Boiteux Uchôa Cavalcanti, Flavia Nardes dos Santos, Jonas Alex Morales Saute, Juliana Gurgel-Giannetti, Marco Antonio Veloso de Albuquerque, Marcondes Cavalcante França Jr., Marcus Vinicius Magno Gonçalves, Rosana Herminia Scola.

Support

The authors declare that they have received support from the Brazilian Academy of Neurology. No authors received individual funding.

Publication History

Received: 03 May 2022

Accepted: 30 August 2022

Article published online:
14 March 2023

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